Novel STAR gene variant in a patient with classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency

We report the first case of classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency. We identified pathogenic variants in the STAR gene: a novel variant of c.126_127delCCinsG, namely, p.Thr44Profs*2 and an already reported variant of c.634C>T, namely, p.Gln212*. Th...

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Enregistré dans:
Détails bibliographiques
Publié dans:Hum Genome Var
Auteurs principaux: Higa, Moritake, Zaha, Akiko, Takushi, Akiko, Morishima, Nami, Majikina, Toyofumi, Touma, Takeshi, Shimabukuro, Michio, Masuzaki, Hiroaki, Honda, Misa, Hasegawa, Tomonobu
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group UK 2021
Sujets:
Data Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7859387/
https://ncbi.nlm.nih.gov/pubmed/33536409
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-021-00138-w
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